Reversible Neurodevelopmental Syndrome in Early Infancy: Insights From 18 Cases of Infantile Tremor Syndrome

Background: Infantile Tremor Syndrome (ITS) remains a public health concern in resource-limited settings, often associated with exclusive breastfeeding and maternal strict vegetarianism. Despite its classical presentation, diagnostic uncertainty and non-evidence-based interventions persist. Methods: This retrospective observational study analyzed 18 children diagnosed with ITS over a 6-month period (November 2024 to April 2025) at a tertiary care teaching hospital in rural India. Demographic data, clinical features, laboratory findings, treatment received, and outcomes were recorded. Diagnosis was based on clinical features consistent with descriptions in standard pediatric references and previously published Indian case series. Results: The median age of presentation was 9 months (range: 7–14 months), with a male predominance (10:8). All children had a history of exclusive breastfeeding, and their mothers followed strict vegetarian diets with complete avoidance of dairy products. Common features included tremors (100%), pallor (100%), developmental delay (94%), hypotonia (100%), and apathy (61%). Seizures occurred in 3 children. Dimorphic anemia was seen in 89%, and B12 levels were normal in 8 children despite classical symptoms. All children were treated with oral vitamin B12, folic acid, and other micronutrients; 6 received parenteral B12 initially. No transfusions were administered at our tertiary care hospital, though 4 children had received transfusions before referral. Clinical improvement, assessed by resolution of tremors and developmental progress, was evident in most by 1 month. Three children had residual deficits at 3 months. No relapses were observed. Conclusion: ITS is a reversible yet often inappropriately treated due to limited awareness in rural India. Oral therapy is effective in most cases. Maternal nutritional screening during antenatal care and awareness against unnecessary anticonvulsants like phenobarbitone are urgently needed. Routine antenatal screening of maternal B12 levels and dietary counseling should be integrated into national maternal health programs.